Charcot-Marie-Tooth disease type 2
GPTKB entity
Properties (61)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
High School
|
| gptkbp:associated_with |
depression
fatigue chronic pain social challenges carpal tunnel syndrome reduced quality of life employment difficulties scoliosis |
| gptkbp:causedBy |
muscle weakness
sensory loss |
| gptkbp:demographics |
1 in 2,500 individuals
|
| gptkbp:designatedAs |
a neuropathy
|
| gptkbp:diseaseResistance |
childhood
adulthood nerve conduction studies electromyography |
| gptkbp:geneticDiversity |
gptkb:MPZ_gene
GJB1 gene |
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 2
|
| gptkbp:impact |
temperature changes
physical therapy occupational therapy orthopedic devices peripheral nerves physical stress |
| gptkbp:inheritsFrom |
autosomal dominant inheritance
|
| gptkbp:introduced |
the 1930s
|
| gptkbp:involves |
genetic testing
clinical examination |
| gptkbp:is_characterized_by |
foot drop
high arches variable severity atrophy of foot muscles distal muscle weakness progressive symptoms |
| gptkbp:is_featured_in |
amyotrophic lateral sclerosis
multiple sclerosis other neuropathies |
| gptkbp:is_governed_by |
pain management
assistive devices |
| gptkbp:is_linked_to |
axonal degeneration
demyelination of nerves |
| gptkbp:is_part_of |
neuromuscular disorders
hereditary neuropathy group peripheral neuropathy spectrum |
| gptkbp:is_recognized_for |
foot deformities
muscle atrophy tremors hand deformities reduced reflexes |
| gptkbp:is_studied_in |
genetics
neurology new treatment methods gene therapy options |
| gptkbp:is_used_in |
gptkb:Charcot-Marie-Tooth_disease_type_1
males |
| gptkbp:leads |
difficulty walking
balance issues hand weakness |
| gptkbp:previousName |
CMT2
|